A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18249118



Internal ID20816158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5796177..7362164hg38UCSC Ensembl
chr19:5796188..7427050hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381565988
hg191630863
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6597141
Supporting Variants
Samples
Known GenesACER1, ACSBG2, ALKBH7, C3, CAPS, CD70, CLPP, CRB3, DENND1C, EMR1, EMR4P, FLJ25758, FUT3, FUT5, FUT6, GPR108, GTF2F1, INSR, KHSRP, LOC100128568, MBD3L2, MBD3L3, MBD3L4, MBD3L5, MIR3940, MIR6790, MIR6791, MIR6885, MLLT1, NDUFA11, NRTN, PSPN, RANBP3, RFX2, SH2D3A, SLC25A23, SLC25A41, TNFSF14, TNFSF9, TRIP10, TUBB4A, VAV1, VMAC, ZNF557
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18249118
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00028


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